Normal
pregnancy and delivery; At age of 13:
microcephaly, short stature, moderately
severe MR, myopia, DYS, congenital
nystagmus spina bifida occulta of S1; in
the past: bilateral vesicoreteric reflux,
chronic serous otis media.
Amniocentesis due to a positive
screen on expanded AFP for trisomy 21 with
an estimated risk of 1: 42; ultrasound at
22 4/7 weeks gestation was normal. The
patient was lost to follow-up.
clinically
abnormal in ultrasound; plexus choroideus
cysts, hypoplastic cerebellum, conspicuous
finding for heart; marker only in CV, not
in amniocytes and not in blood,
postnatally. Ultrasound-abnormalities were
detected, postnatal suspected to suffer
from Aicardi-syndrome. Child deceased a
few years after birth
01- U-
6
male/
prenatal
AF
de novo
47,XY,+mar[8]/
46,XY[22]
r(1)(::p21→q21::)
cep probes; SKY, midi
prenatal diagnosis due to
advanced maternal age. No ultrasound
abnormalities, TOP in week 23 of
gestation. In autopsy no abnormalities
detected.
Born at term
after normal pregnancy; birth w and l 10th
centile, OFC >20th centile; dysmorphic face
(asymmetry, hypertelorism, low-set ears,
micrognathia, broad nasal bridge, short
philtrum, dimple between lower lip and chin,
high palate, prominent occiput); simian
crease; sacral dimple; at 9 m DD of at least 2
months but no growth retardation; psychomotor
developmental delay of ~1y; at 5.5y her
language abilities had improved, she was able
to form whole sentences, but she had
difficulties to concentrate
01-
Ud-
3
male/
8y
PBL
de novo
47,XY,+mar[30%]/
46,XY[70%]
r(1)(::q11→p11.2::1?::)
different FISH-probes:
D1Z1; BAC923C6 in 1p12, RR6 in 1q12;
midi-probe of case D{8}
minor dysmorphic features, moderately
intelligent at age of 12y
Born at term
after uneventful pregnancy; birth weight:
2,500g; length: 49cm; OFC: ?; at 6y: mental
retardation; height: normal; weight normal; HC
44cm (<3rd centile); dysmorphic face
(additionally temporal narrowing, downward
slanting palpebral fissures, long eyelashes,
high palate, pointed chin, low set, dysplastic
ears); hip dysplasia, tapering fingers with
clinodactyly of fingers 2, 4, 5.
01-
Uu-
2
n.a.
PBL
n.a.
n.a.
mar(1)
acc. to aCGH most likely heterochromatic or
low mosaic
also (partial) (i)UPD 1